S400P (p.Ser400Pro) variant of FERMT1 (Fermitin family homolog 1)
S400P (p.Ser400Pro) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kindler syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S400P (p.Ser400Pro) variant details
- p.Ser400Pro
- rs869312718
- ClinGen CA357195
- ClinVar RCV000209936
- UniProt VAR 066943
- Pathogenic
- Kindler syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.81
- CADD 24.10
- PolyPhen-2 0.62
- SIFT 0.18
- ClinVar: Pathogenic (Kindler syndrome)
- EBI: Pathogenic (in KNDLRS)
- UniProt: Pathogenic (in KNDLRS)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. (PMID 21936020)
- Cited in: Kindler Syndrome. (PMID 26937547)